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Items: 1 to 20 of 36

1.
Identification and validation of a prognostic-related mutant gene DNAH5 for hepatocellular carcinoma
Zebing Song, Xiaodong Song, Hang Li, Zongbing Cheng, Zengyi Mo, Xuewei Yang
Front Immunol. 2023; 14: 1236995. Published online 2023 Oct 25. doi: 10.3389/fimmu.2023.1236995
PMCID:
PMC10630911
AbstractArticlePDF–3.9M
2.
Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness
Jaehyun Joo, Angel C. Y. Mak, Shujie Xiao, Patrick M. Sleiman, Donglei Hu, Scott Huntsman, Celeste Eng, Mengyuan Kan, Avantika R. Diwakar, Jessica A. Lasky-Su, Scott T. Weiss, Joanne E. Sordillo, Ann C. Wu, Michelle Cloutier, Glorisa Canino, Erick Forno, Juan C. Celedón, Max A. Seibold, Hakon Hakonarson, L. Keoki Williams, Esteban G. Burchard, Blanca E. Himes
Sci Rep. 2022; 12: 12514. Published online 2022 Jul 22. doi: 10.1038/s41598-022-16488-6
PMCID:
PMC9307508
AbstractArticlePDF–1.4M
3.
Novel homozygous mutations of DNAH5 in Kartagener syndrome
Xian-Dong Cheng, Fang Ni, Yang Lu
QJM. 2022 May; 115(5): 319–320. Published online 2021 Dec 28. doi: 10.1093/qjmed/hcab330
PMCID:
PMC9086755
ArticlePDF–300K
4.
Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy
Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang
Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003
PMCID:
PMC8897022
AbstractArticlePDF–3.0M
5.
Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review
Lina Wang, Xin Zhao, Hang Liang, Li Zhang, Chunyan Li, Deli Li, Xiangfeng Meng, Fanzheng Meng, Mao Gao
BMC Pulm Med. 2021; 21: 263. Published online 2021 Aug 14. doi: 10.1186/s12890-021-01586-4
PMCID:
PMC8364053
AbstractArticlePDF–1.5M
6.
Genome-wide association analysis of cognitive function in Danish long-lived individuals
Marianne Nygaard, Joseph Dowsett, Matt McGue, Kaare Christensen, Lene Christiansen, Qihua Tan, Jonas Mengel-From
Mech Ageing Dev. Author manuscript; available in PMC 2022 Apr 1.
Published in final edited form as: Mech Ageing Dev. 2021 Apr; 195: 111463. Published online 2021 Feb 16. doi: 10.1016/j.mad.2021.111463
PMCID:
PMC8035220
AbstractArticlePDF–824K
7.
Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report
Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, Harriet E. Nilsson, Jesper Eisfeldt, Anca Dragomir, Martin Paucar, Tobias Granberg, Tie-Qiang Li, Anna Lindstrand, Juha Kere, Isabel Tapia-Páez
BMC Med Genet. 2020; 21: 87. Published online 2020 May 1. doi: 10.1186/s12881-020-01020-2
PMCID:
PMC7193346
AbstractArticlePDF–3.6M
8.
The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis
Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino
Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9
PMCID:
PMC6778137
AbstractArticlePDF–7.8M
9.
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia
Marjorie Whitfield, Lucie Thomas, Emilie Bequignon, Alain Schmitt, Laurence Stouvenel, Guy Montantin, Sylvie Tissier, Philippe Duquesnoy, Bruno Copin, Sandra Chantot, Florence Dastot, Catherine Faucon, Anne Laure Barbotin, Anne Loyens, Jean-Pierre Siffroi, Jean-François Papon, Estelle Escudier, Serge Amselem, Valérie Mitchell, Aminata Touré, Marie Legendre
Am J Hum Genet. 2019 Jul 3; 105(1): 198–212. Published online 2019 Jun 6. doi: 10.1016/j.ajhg.2019.04.015
PMCID:
PMC6612517
AbstractArticlePDF–3.2M
10.
Gain of additional BIRC3 protein functions through 3′UTR-mediated protein complex formation
Shih-Han Lee, Christine Mayr
Mol Cell. Author manuscript; available in PMC 2020 May 16.
Published in final edited form as: Mol Cell. 2019 May 16; 74(4): 701–712.e9. Published online 2019 Apr 1. doi: 10.1016/j.molcel.2019.03.006
PMCID:
PMC6581197
AbstractArticlePDF–2.0M
11.
POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1
Boshi Wang, Xiaoli Xu, Zhaojuan Yang, Li Zhang, Yun Liu, Aihui Ma, Guiqin Xu, Ming Tang, Tiantian Jing, Lin Wu, Yongzhong Liu
EBioMedicine. 2019 Mar; 41: 320–332. Published online 2019 Feb 7. doi: 10.1016/j.ebiom.2019.01.058
PMCID:
PMC6441868
AbstractArticlePDF–7.0M
12.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
AbstractArticlePDF–3.8M
13.
KAP1 facilitates reinstatement of heterochromatin after DNA replication
Suk Min Jang, Annamaria Kauzlaric, Jean-Pierre Quivy, Julien Pontis, Benjamin Rauwel, Andrea Coluccio, Sandra Offner, Julien Duc, Priscilla Turelli, Geneviève Almouzni, Didier Trono
Nucleic Acids Res. 2018 Sep 28; 46(17): 8788–8802. Published online 2018 Jun 28. doi: 10.1093/nar/gky580
PMCID:
PMC6158507
AbstractArticlePDF–9.4M
14.
ZMYND10 functions in a chaperone relay during axonemal dynein assembly
Girish R Mali, Patricia L Yeyati, Seiya Mizuno, Daniel O Dodd, Peter A Tennant, Margaret A Keighren, Petra zur Lage, Amelia Shoemark, Amaya Garcia-Munoz, Atsuko Shimada, Hiroyuki Takeda, Frank Edlich, Satoru Takahashi, Alex von Kreigsheim, Andrew P Jarman, Pleasantine Mill
eLife. 2018; 7: e34389. Published online 2018 Jun 19. doi: 10.7554/eLife.34389
PMCID:
PMC6044906
AbstractArticlePDF–6.9M
15.
Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia
Gen Kano, Hisashi Tsujii, Kazuhiko Takeuchi, Kaname Nakatani, Makoto Ikejiri, Satoru Ogawa, Hisami Kubo, Mizuho Nagao, Takao Fujisawa
Mol Med Rep. 2016 Dec; 14(6): 5077–5083. Published online 2016 Oct 21. doi: 10.3892/mmr.2016.5871
PMCID:
PMC5355724
AbstractArticlePDF–967K
16.
Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations
Xuan Xu, Ping Gong, Jie Wen
J Assist Reprod Genet. 2017 Feb; 34(2): 275–281. Published online 2016 Dec 17. doi: 10.1007/s10815-016-0849-3
PMCID:
PMC5306412
AbstractArticlePDF–2.2M
17.
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes
Gerard W. Dougherty, Niki T. Loges, Judith A. Klinkenbusch, Heike Olbrich, Petra Pennekamp, Tabea Menchen, Johanna Raidt, Julia Wallmeier, Claudius Werner, Cordula Westermann, Christian Ruckert, Virginia Mirra, Rim Hjeij, Yasin Memari, Richard Durbin, Anja Kolb-Kokocinski, Kavita Praveen, Mohammad A. Kashef, Sara Kashef, Fardin Eghtedari, Karsten Häffner, Pekka Valmari, György Baktai, Micha Aviram, Lea Bentur, Israel Amirav, Erica E. Davis, Nicholas Katsanis, Martina Brueckner, Artem Shaposhnykov, Gaia Pigino, Bernd Dworniczak, Heymut Omran
Am J Respir Cell Mol Biol. 2016 Aug; 55(2): 213–224. doi: 10.1165/rcmb.2015-0353OC
PMCID:
PMC4979367
AbstractArticlePDF–2.5M
18.
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
Heike Olbrich, Carolin Cremers, Niki T. Loges, Claudius Werner, Kim G. Nielsen, June K. Marthin, Maria Philipsen, Julia Wallmeier, Petra Pennekamp, Tabea Menchen, Christine Edelbusch, Gerard W. Dougherty, Oliver Schwartz, Holger Thiele, Janine Altmüller, Frank Rommelmann, Heymut Omran
Am J Hum Genet. 2015 Oct 1; 97(4): 546–554. Published online 2015 Sep 17. doi: 10.1016/j.ajhg.2015.08.012
PMCID:
PMC4596893
AbstractArticlePDF–1.4M
19.
DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease
Jin Hwa Lee, Merry-Lynn N McDonald, Michael H Cho, Emily S Wan, Peter J Castaldi, Gary M Hunninghake, Nathaniel Marchetti, David A Lynch, James D Crapo, David A Lomas, Harvey O Coxson, Per S Bakke, Edwin K Silverman, Craig P Hersh, the COPDGene and ECLIPSE Investigators
Respir Res. 2014; 15(1): 97. Published online 2014 Aug 20. doi: 10.1186/s12931-014-0097-y
PMCID:
PMC4169636
AbstractArticlePDF–1.6M
20.
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
Alexandros Onoufriadis, Amelia Shoemark, Mustafa M Munye, Chela T James, Miriam Schmidts, Mitali Patel, Elisabeth M Rosser, Chiara Bacchelli, Philip L Beales, Peter J Scambler, Stephen L Hart, Jeannette E Danke-Roelse, John J Sloper, Sarah Hull, Claire Hogg, Richard D Emes, Gerard Pals, Anthony T Moore, Eddie M K Chung, UK10K, Hannah M Mitchison
J Med Genet. 2014 Jan; 51(1): 61–67. Published online 2013 Nov 7. doi: 10.1136/jmedgenet-2013-101938
PMCID:
PMC3888613
AbstractArticlePDF–8.3M

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